Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia
Thompson, K. P, Sykes, J, Chandakkar, P, Marambaud, P, Vozoris, N. T, Marchuk, D. A, Faughnan, M. E
Published in Orphanet journal of rare diseases (07.11.2022)
Published in Orphanet journal of rare diseases (07.11.2022)
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A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis
Galeffi, F., Snellings, D. A., Wetzel-Strong, S. E., Kastelic, N., Bullock, J., Gallione, C. J., North, P. E., Marchuk, D. A.
Published in Angiogenesis (London) (01.11.2022)
Published in Angiogenesis (London) (01.11.2022)
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Journal Article
Predictors of mortality in patients with hereditary hemorrhagic telangiectasia
Thompson, K P, Nelson, J, Kim, H, Pawlikowska, L, Marchuk, D A, Lawton, M T, Faughnan, Marie E
Published in Orphanet journal of rare diseases (06.01.2021)
Published in Orphanet journal of rare diseases (06.01.2021)
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Journal Article
Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia
Thompson, K P, Nelson, J, Kim, H, Weinsheimer, S M, Marchuk, D A, Lawton, M T, Krings, T, Faughnan, M E
Published in Orphanet journal of rare diseases (19.09.2021)
Published in Orphanet journal of rare diseases (19.09.2021)
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Journal Article
SMAD4 mutations found in unselected HHT patients
Gallione, C J, Richards, J A, Letteboer, T G W, Rushlow, D, Prigoda, N L, Leedom, T P, Ganguly, A, Castells, A, Ploos van Amstel, J K, Westermann, C J J, Pyeritz, R E, Marchuk, D A
Published in Journal of medical genetics (01.10.2006)
Published in Journal of medical genetics (01.10.2006)
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Journal Article
Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia
Abdalla, S.A, Gallione, C.J, Barst, R.J, Horn, E.M, Knowles, J.A, Marchuk, D.A, Letarte, M, Morse, J.H
Published in The European respiratory journal (01.03.2004)
Published in The European respiratory journal (01.03.2004)
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Journal Article
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations
Gianfrancesco, F, Esposito, T, Penco, S, Maglione, V, Liquori, C.L, Patrosso, M.C, Zuffardi, O, Ciccodicola, A, Marchuk, D.A, Squitieri, F
Published in Neuroscience (13.08.2008)
Published in Neuroscience (13.08.2008)
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Journal Article
Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus
Salzler, H.R., Griffiths, R., Ruiz, P., Chi, L., Frey, C., Marchuk, D.A., Rockman, H.A., Le, T.H.
Published in Kidney international (01.11.2007)
Published in Kidney international (01.11.2007)
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Journal Article
Expression Analysis of Four Endoglin Missense Mutations Suggests That Haploinsufficiency Is the Predominant Mechanism for Hereditary Hemorrhagic Telangiectasia Type 1
Pece-Barbara, Nadia, Cymerman, Urszula, Vera, Sonia, Marchuk, Douglas A., Letarte, Michelle
Published in Human molecular genetics (01.11.1999)
Published in Human molecular genetics (01.11.1999)
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Journal Article
Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)
Sahoo, Trilochan, Johnson, Eric W., Thomas, James W., Kuehl, Peter M., Jones, Thomas L., Dokken, Charles G., Touchman, Jeffrey W., Gallione, Carol J., Lee-Lin, Shih-Queen, Kosofsky, Barry, Kurth, Janice H., Louis, David N., Mettler, Gabrielle, Morrison, Leslie, Gil-Nagel, Antonio, Rich, Steven S., Zabramski, Joseph M., Boguski, Mark S., Green, EricD, Marchuk, Douglas A.
Published in Human molecular genetics (01.11.1999)
Published in Human molecular genetics (01.11.1999)
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Journal Article
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2
Johnson, D.W, Berg, J.N, Baldwin, M.A, Gallione, C.J, Marondel, I, Yoon, S.-J, Stenzel, T.T, Speer, M, Pericak-Vance, M.A, Diamond, A, Guttmacher, A.E, Jackson, C.E, Attisano, L, Kucherlapati, R, Porteous, M.E.M, Marchuk, D.A
Published in Nature genetics (01.06.1996)
Published in Nature genetics (01.06.1996)
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Journal Article
The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2
Berg, Jonathan N., Gallione, Carol J., Stenzel, Timothy T., Johnson, David W., Allen, William P., Schwartz, Charles E., Jackson, Charles E., Porteous, Mary E.M., Marchuk, Douglas A.
Published in American journal of human genetics (01.07.1997)
Published in American journal of human genetics (01.07.1997)
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Journal Article
Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?
Berg, J N, Walter, J W, Thisanagayam, U, Evans, M, Blei, F, Waner, M, Diamond, A G, Marchuk, D A, Porteous, M E
Published in Journal of clinical pathology (01.03.2001)
Published in Journal of clinical pathology (01.03.2001)
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Journal Article
cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product
Marchuk, Douglas A., Saulino, Ann M., Tavakkol, Roxanne, Swaroop, Manju, Wallace, Margaret R., Andersen, Lone B., Mitchell, Anna L., Gutmann, David H., Boguski, Mark, Collins, Francis S.
Published in Genomics (San Diego, Calif.) (1991)
Published in Genomics (San Diego, Calif.) (1991)
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Journal Article
Allelic and Locus Heterogeneity in Inherited Venous Malformations
Calvert, Jennifer T., Riney, Travis J., Kontos, Christopher D., Cha, Eugene H., Prieto, Victor G., Shea, Christopher R., Berg, Jonathan N., Nevin, Norman C., Simpson, Sheila A., Pasyk, Krystyna A., Speer, Marcy C., Peters, Kevin G., Marchuk, Douglas A.
Published in Human molecular genetics (01.07.1999)
Published in Human molecular genetics (01.07.1999)
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Journal Article
Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients
Wallace, Margaret R., Marchuk, Douglas A., Andersen, Lone B., Letcher, Roxanne, Odeh, Hana M., Saulino, Ann M., Fountain, Jane W., Brereton, Anne, Nicholson, Jane, Mitchell, Anna L., Brownstein, Bernard H., Collins, Francis S.
Published in Science (American Association for the Advancement of Science) (13.07.1990)
Published in Science (American Association for the Advancement of Science) (13.07.1990)
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